Open AccessSevere Short Stature in Two Siblings as the Presenting Sign of <b><i>ACP5</i></b> Deficiency
Author(s) -
Christiaan de Bruin,
Zerrin Orbak,
Melissa Andrew,
Vivian Hwa,
Andrew Dauber
Publication year - 2016
Publication title -
hormone research in paediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.816
H-Index - 89
eISSN - 1663-2826
pISSN - 1663-2818
DOI - 10.1159/000443684
Subject(s) - short stature , medicine , frameshift mutation , endocrinology , exome sequencing , dysplasia , mutation , genetics , biology , gene
ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature.
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